E1788K Summary

SCN5A E1788K was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1788K is not present in gnomAD. E1788K has been functionally characterized in 0 papers. Other variants at the same resdue are E1788A .E1788D .E1788D .E1788G .E1788K .E1788Q .E1788V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

E1788K Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL
NA NA NA NA NA NA NA NA 0.917

E1788K has 60 neighbors within 15 ångströms that have been found in individuals.

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.

ResidueNumber Distance(Å) Variants
1493 13.7 K1493R p.K1493del
1495 14.5
1496 10.5
1497 9.9
1498 13.5 M1498R M1498T
1499 11.9
1500 6.3
1501 10.9 L1501V
1502 12.2 G1502A G1502S
1503 9.7
1504 8.2
1505 13.4 K1505N K1505N p.K1505_Q1507del
1506 14.4 P1506S
1507 13.5 p.Q1507_P1509del
1634 14.8
1637 14
1638 12 R1638Q
1641 11.5
1642 14
1643 14.7
1644 9.5 R1644C R1644H
1645 9.3 T1645M
1646 12.9
1647 12.1
1648 6.3
1649 10.1
1650 13.2
1651 9.9
1652 9.1
1653 13.8
1654 14.9
1774 12.8
1775 14.4
1776 14.9
1777 11.8 V1777M
1778 9.7
1779 13.1 T1779M
1780 14.6
1781 9 E1781G
1782 11.3
1783 14.4
1785 11.2
1786 8.2 L1786Q
1787 5.1 S1787N
1789 5.6
1790 6.7 D1790G D1790N
1791 5.4
1792 5.3 D1792N
1793 9.9 M1793K
1794 11
1795 10.5 p.Y1795_E1796insD Y1795C Y1795H
1796 11.5
1797 14.4
1821 14.8
1822 13.2
1824 13.7
1825 12.8 L1825P
1854 12.5
1858 12.9
1861 14.9